C10ORF2 mutation associated with progressive external ophthalmoplegia and clinically isolated syndrome

Excerpt

Sporadic chronic progressive external ophthalmoplegia (CPEO) is most commonly due to large-scale deletions or rearrangements of mitochondrial DNA (mtDNA) [1, 2]. MtDNA mutations are responsible for diseases involving central nervous system, for instance, Leber’s hereditary optic neuropathy (LHON), which is reported in association with both multiple sclerosis (MS) and MS-like magnetic resonance imaging (MRI) patterns, raising important questions about common pathophysiological mechanisms [1‐3]. Indeed, mtDNA deletions and respiratory-deficient neurons have been described in MS [4]. Patients presenting first with clinical symptoms, not fulfilling the MRI criteria for dissemination in space and time according to the 2010 revision of the McDonald diagnostic criteria for MS, are classified as clinically isolated syndrome (CIS) possibly antedating definite MS [5]. We report the first case of mitochondrial dysfunction caused by mutation in C10ORF2 gene, presenting with CPEO associated with an incomplete transverse myelitis as CIS [5]. …